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The First Reported Japanese Case of PNPLA1‐Nonsyndromic Epidermal Differentiation Disorder (PNPLA1‐nEDD) Associated With an Unreported 92‐Base‐Pair Duplication Variant.

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Title: The First Reported Japanese Case of PNPLA1‐Nonsyndromic Epidermal Differentiation Disorder (PNPLA1‐nEDD) Associated With an Unreported 92‐Base‐Pair Duplication Variant.
Authors: Kato, Shiori1 (AUTHOR), Takeichi, Takuya1,2 (AUTHOR) takeichi.takuya.d9@f.mail.nagoya‐u.ac.jp, Jojima, Keisuke3 (AUTHOR), Kato, Maiko4 (AUTHOR), Omi, Michiya1 (AUTHOR), Tanahashi, Kana1 (AUTHOR), Otsuka, Atsushi4 (AUTHOR), Muro, Yoshinao1 (AUTHOR), Kihara, Akio3 (AUTHOR), Akiyama, Masashi1 (AUTHOR) makiyama@med.nagoya‐u.ac.jp
Source: Experimental Dermatology. Jun2025, Vol. 34 Issue 6, p1-6. 6p.
Database: Academic Search Ultimate
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  Data: The First Reported Japanese Case of PNPLA1‐Nonsyndromic Epidermal Differentiation Disorder (PNPLA1‐nEDD) Associated With an Unreported 92‐Base‐Pair Duplication Variant.
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  Data: <searchLink fieldCode="JN" term="%22Experimental+Dermatology%22">Experimental Dermatology</searchLink>. Jun2025, Vol. 34 Issue 6, p1-6. 6p.
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        Value: 10.1111/exd.70130
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        Text: English
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      – TitleFull: The First Reported Japanese Case of PNPLA1‐Nonsyndromic Epidermal Differentiation Disorder (PNPLA1‐nEDD) Associated With an Unreported 92‐Base‐Pair Duplication Variant.
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              M: 06
              Text: Jun2025
              Type: published
              Y: 2025
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